Children With Fragile X Syndrome

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Fragile X Syndrome

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Author : Fabrizio Stasolla
language : en
Publisher: Nova Science Publishers
Release Date : 2022

Fragile X Syndrome written by Fabrizio Stasolla and has been published by Nova Science Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with Education categories.

Fragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene located on the X chromosome. It is commonly described as one of the most common genetic diseases with autism-like behaviours and related developmental disabilities. Beside intellectual delays, behavioural problems, and communication difficulties, mood disorders usually occur. Diagnosis is based on laboratory tests and DNA results. Phenotypes including long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviours are frequently observed. Although there is no specific cure, early interventions are highly encouraging, promising, and recommended. Pharmacological treatments may be combined with behavioural and/or cognitive behavioural interventions. Recently, assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome. Chapter One encompasses the molecular features and pathological bases of the disease. A comprehensive literature overview was conducted. The role of the FMR protein was emphasized although few studies evaluated its function. Chapter Two deals with the neuropsychiatric symptoms related to the syndrome. A complete conceptual framework was exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review was carried out. Clinical relevance was outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development was described. Challenging behaviours were included and the importance of the early combined intervention was critically discussed. Chapters Five, Six, and Seven detailed three case reports on the effectiveness and the suitability of assistive technology-based interventions. Specifically, Chapter Five argued for microswitch-cluster technology focused on pursuing the dual simultaneous goal of promoting an adaptive response (i.e., object manipulation) and reducing a challenging behaviour (i.e., hand mouthing). Chapter Six describes a combined microswitch and VOCA program useful to ensure the participant has the choice between independent access to positive stimulation and asking for social interaction. Finally, Chapter Seven includes choice opportunities through an assistive technology-mediated program involving a boy with Fragile X in a functional task. Targeted readers (i.e., caregivers, clinicians, speech therapists, professionals, psychologists, neurologists, parents of children with Fragile X syndrome, teachers) may find interesting and stimulating tips and insights for daily use in clinical research and practice, with the dual objective of diagnosis and treatment.

The Causes Of Epilepsy

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Author : Simon D. Shorvon
language : en
Publisher: Cambridge University Press
Release Date : 2011-04-14

The Causes Of Epilepsy written by Simon D. Shorvon and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-14 with Medical categories.

Causation is an aspect of epilepsy neglected in the scientific literature and in the conceptualization of epilepsy at a clinical and experimental level. It was to remedy this deficiency that this book was conceived. The book opens with a draft etiological classification that goes some way to filling the nosological void. The book is divided into four etiological categories: idiopathic, symptomatic, cryptogenic, and provoked epilepsies. Each chapter considers topics in a consistent fashion, dealing with the phenomenon of epilepsy in each etiology, including its epidemiology, clinical features and prognosis, and any specific aspects of treatment. The book is a comprehensive reference work, a catalogue of all important causes of epilepsy, and a clinical tool for all clinicians dealing with patients who have epilepsy. It is aimed at epileptologists and neurologists and provides a distillation of knowledge in a form that is helpful in the clinical setting.

Cassidy And Allanson S Management Of Genetic Syndromes

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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27

Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Speech Language Development Intervention In Down Syndrome Fragile X Syndrome

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Author : Joanne Erwick Roberts
language : en
Publisher: Brookes Publishing Company
Release Date : 2008

Speech Language Development Intervention In Down Syndrome Fragile X Syndrome written by Joanne Erwick Roberts and has been published by Brookes Publishing Company this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Education categories.

Written by leading experts, this is the most up-to-date resource on speech and language assessment and intervention for professionals working with infants to adults with Down Syndrome and Fragile X Syndrome.

Fragile X Syndrome

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Author : Randi Jenssen Hagerman
language : en
Publisher: JHU Press
Release Date : 2002-05-17

Fragile X Syndrome written by Randi Jenssen Hagerman and has been published by JHU Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002-05-17 with Medical categories.

Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents information on treatment.

New Research On Fragile X Syndrome

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Author :
language : en
Publisher: Nova Publishers
Release Date : 2007

New Research On Fragile X Syndrome written by and has been published by Nova Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Fragile X syndrome categories.

Children With Fragile X Syndrome

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Author : Jayne Dixon Weber
language : en
Publisher:
Release Date : 2000

Children With Fragile X Syndrome written by Jayne Dixon Weber and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Family & Relationships categories.

Fragile X syndrome is believed to be the most common genetic cause of mental retardation, even more common than Down syndrome. It can result in a wide range of developmental delays, learning disabilities, and physical characteristics -- which all tend to be more pronounced in boys than in girls. At last, there is a comprehensive book on fragile X syndrome for parents. The first and only book of its kind, this book provides a complete, sensitive introduction to fragile X syndrome, an inherited, genetic condition caused by a mutation on the X-chromosome. This new guide is written by an experienced, caring group of parents, doctors, therapists, and teachers, who offer an in-depth look at the issues and concerns affecting children and their families.

Understanding Fragile X Syndrome

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Author : Isabel Fernández Carvajal
language : en
Publisher: Jessica Kingsley Publishers
Release Date : 2011-08-15

Understanding Fragile X Syndrome written by Isabel Fernández Carvajal and has been published by Jessica Kingsley Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-08-15 with Health & Fitness categories.

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome.

Fragile X Syndrome New Insights For The Healthcare Professional 2011 Edition

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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-01-09

Fragile X Syndrome New Insights For The Healthcare Professional 2011 Edition written by and has been published by ScholarlyEditions this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-09 with Medical categories.

Fragile X Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Fragile X Syndrome in a compact format. The editors have built Fragile X Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Fragile X Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Fragile X Syndrome: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Neurogenetic Developmental Disorders

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Author : Michèle M. M. Mazzocco
language : en
Publisher: MIT Press
Release Date : 2007

Neurogenetic Developmental Disorders written by Michèle M. M. Mazzocco and has been published by MIT Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Child categories.

Table of Contents: 1. Turner syndrome in childhood / Marsha L. Davenport, Stephen R. Hooper and Martha Zeger 2. Klinefelter syndrome / Judith L. Ross, Gerry A. Stefanatos and David Roeltgen 3. Fragile X syndrome : the journey from genes to behavior / Kimberly M. Cornish, Andrew Levitas and Vicki Sudhalter 4. Duchenne muscular dystrophy / Veronica J. Hinton and Edward M. Goldstein 5. Neurofibromatosis / John M. Slopis and Bartlett D. Moore III 6. Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome / Tony J. Simon, Merav Burg-Malki and Doron Gothelf 7. Williams Syndrome / Carolyn B. Mervis and Colleen A. Morris 8. Congenital hypothyroidism : genetic and biochemical influences on brain development and neuropsychological functioning / Joanne F. Rovet and Rosalind Brown 9. Inborn errors of metabolism / Kevin M. Antshel and Georgianne Arnold 10. Neurodevelopmental effects of childhood exposure to heavy metals : lessons from pediatric lead poisoning / Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider and John F. Rosen 11. Beyond the diagnosis : the process of genetic counseling / Allyn McConkie-Rosell and Julianne O'Daniel 12. From diagnosis to adaptation : optimizing family and child functioning when a genetic diagnosis is associated with mental retardation / Laraine Masters Glidden and Sarah A. Schoolcraft 13. When a genetic disorder is associated with learning disabilities / Michele M. M. Mazzocco 14. Early intervention and early childhood special education for young children with neurogenetic disorders / Deborah D. Hatton 15. The individualized education program : navigating the IEP development process / Vicki Sudhalter.